rs200981413
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_022122.3(MMP27):c.1373G>T(p.Arg458Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000196 in 1,613,298 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_022122.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000854 AC: 13AN: 152166Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000678 AC: 17AN: 250784Hom.: 0 AF XY: 0.0000738 AC XY: 10AN XY: 135572
GnomAD4 exome AF: 0.000207 AC: 303AN: 1461132Hom.: 0 Cov.: 30 AF XY: 0.000208 AC XY: 151AN XY: 726878
GnomAD4 genome AF: 0.0000854 AC: 13AN: 152166Hom.: 0 Cov.: 33 AF XY: 0.0000807 AC XY: 6AN XY: 74334
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at